{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257285",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29589[alleleid]",
        "alleleId": 29589,
        "preferredName": "NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14550",
        "RCV": [
          "RCV000015651",
          "RCV000675069"
        ],
        "variationId": 14550
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209806447C>G?assembly=hg19",
        "id": "chr1:g.209806447C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209633102C>G?assembly=hg38",
        "id": "chr1:g.209633102C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912486",
        "rs": 121912486
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209633102-C-G?dataset=gnomad_r4",
        "id": "1-209633102-C-G",
        "variant": "1:209633102 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209633102,
          "referenceAllele": "C",
          "start": 209633101
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209633102C>G",
        "CM000663.2:g.209633102C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209806447,
          "referenceAllele": "C",
          "start": 209806446
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209806447C>G",
        "CM000663.1:g.209806447C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 207873070,
          "referenceAllele": "C",
          "start": 207873069
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207873070C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24374,
          "referenceAllele": "G",
          "start": 24373
        }
      ],
      "hgvs": [
        "NG_007116.1:g.24374G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gly199Ala",
        "hgvsWellDefined": "ENSP00000348384.3:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.596G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.596G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gly199Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gly199Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gly199Ala",
        "hgvsWellDefined": "ENSP00000348384.3:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Gly199Ala",
        "hgvsWellDefined": "ENSP00000355997.3:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Gly199Ala",
        "hgvsWellDefined": "ENSP00000375778.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112478",
      "coordinates": [
        {
          "allele": "C",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gly199Ala",
        "hgvsWellDefined": "NP_000219.2:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825314972",
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gly199Ala",
        "hgvsWellDefined": "NP_001017402.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967603",
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Gly199Ala",
        "hgvsWellDefined": "NP_001121113.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gly199Ala",
        "hgvsWellDefined": "XP_005273181.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gly199Ala",
        "hgvsWellDefined": "XP_005273181.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.404G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Gly135Ala",
        "hgvsWellDefined": "XP_016856761.1:p.Gly135Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112478",
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gly199Ala",
        "hgvsWellDefined": "NP_000219.2:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.596G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.596G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gly199Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gly199Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825314972",
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.596G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gly199Ala",
        "hgvsWellDefined": "NP_001017402.1:p.Gly199Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}